{"id":3799,"date":"2023-08-04T17:59:22","date_gmt":"2023-08-04T17:59:22","guid":{"rendered":"https:\/\/dailyai.com\/?p=3799"},"modified":"2023-08-04T18:05:23","modified_gmt":"2023-08-04T18:05:23","slug":"ai-powered-blood-test-detects-cancers-in-single-dna-molecules","status":"publish","type":"post","link":"https:\/\/dailyai.com\/da\/2023\/08\/ai-powered-blood-test-detects-cancers-in-single-dna-molecules\/","title":{"rendered":"AI-drevet blodpr\u00f8ve opdager kr\u00e6ft i enkelte DNA-molekyler"},"content":{"rendered":"

Forskere p\u00e5 Johns Hopkins Kimmel Cancer Center er i gang med at udvikle en ny blodpr\u00f8veteknologi kaldet GEMINI (Genome-wide Mutational Incidence for Non-Invasive detection of cancer).\u00a0<\/b><\/p>\n

Ved at kombinere genomisk sekventering af enkelte DNA-molekyler fra tumorer med maskinl\u00e6ring (ML) kan testen g\u00f8re det muligt at opdage lungekr\u00e6ft og andre former for kr\u00e6ft tidligere.<\/span><\/p>\n

GEMINI-testen analyserer cellefrit DNA (cfDNA)-fragmenter, der udskilles af tumorer, og bruger ML til at opdage forskelle i kr\u00e6ft- og ikke-kr\u00e6ftmutationsfrekvenser p\u00e5 tv\u00e6rs af genomet. H\u00f8jere scores genereret af modellen antyder en h\u00f8jere sandsynlighed for at have kr\u00e6ft.<\/span><\/p>\n

I laboratorietests blev GEMINI anvendt p\u00e5 computertomografibilleder og opdagede over 90% lungekr\u00e6ft, selv i tidlige stadier. Den <\/span>unders\u00f8gelse<\/span><\/a> Resultaterne blev offentliggjort i Nature Genetics.\u00a0<\/span><\/p>\n

Forskerne fokuserede prim\u00e6rt p\u00e5 opsporing af lungekr\u00e6ft i h\u00f8jrisikogrupper. <\/span><\/p>\n

Der blev dog ogs\u00e5 observeret \u00e6ndrede mutationsprofiler i cfDNA fra patienter med leverkr\u00e6ft, melanom og lymfom, s\u00e5 denne tilgang kan bruges p\u00e5 tv\u00e6rs af forskellige kr\u00e6fttyper.\u00a0<\/span><\/p>\n

S\u00e5dan skabte forskerne GEMINI<\/span><\/h2>\n

For at udvikle GEMINI unders\u00f8gte teamet genomsekvenser fra 2.511 personer med 25 forskellige kr\u00e6ftformer.\u00a0<\/span><\/p>\n

Forskellige tumortyper havde forskellige mutationsprofiler. Forskerne fandt, at genomiske regioner med en h\u00f8j mutationsfrekvens var ens mellem tumorv\u00e6v og blodafledt cfDNA hos patienter med lungekr\u00e6ft, melanom eller B-celle non-Hodgkin-lymfom.\u00a0<\/span><\/p>\n

GEMINI-testen blev derefter anvendt p\u00e5 cfDNA fra 365 personer med h\u00f8j risiko for lungekr\u00e6ft, hvilket gav h\u00f8jere score hos personer med kr\u00e6ft end hos dem uden.\u00a0<\/span><\/p>\n

Forskerne unders\u00f8gte ogs\u00e5, om GEMINI kunne integreres med en tidligere test kendt som DELFI (DNA evaluation of fragments for early interception),<\/span><\/p>\n

I alt identificerede GEMINI og DELFI kr\u00e6ftformer korrekt i 91% af tilf\u00e6ldene i 89 pr\u00f8ver.<\/span><\/p>\n

\"ML-kr\u00e6ft\"
Maskinl\u00e6ring hjalp forskere med at analysere kr\u00e6ftmark\u00f8rer i celler. Kilde: Naturen<\/a>.<\/figcaption><\/figure>\n

Bem\u00e6rkelsesv\u00e6rdigt nok opdagede GEMINI-testen abnormiteter i cfDNA-mutationsprofiler flere \u00e5r f\u00f8r standarddiagnoser hos syv patienter uden p\u00e5viselige tumorer p\u00e5 tidspunktet for blodindsamlingen.\u00a0<\/span><\/p>\n

Seks blev testet positive med GEMINI og blev senere diagnosticeret med lungekr\u00e6ft mellem 231 og 1.868 dage efter, at pr\u00f8verne blev taget.<\/span><\/p>\n

Opdeling af unders\u00f8gelsen<\/span><\/h2>\n
    \n
  1. Blodpr\u00f8vetagning<\/b>: Der tages en blodpr\u00f8ve fra en person, som kan v\u00e6re i risiko for at udvikle kr\u00e6ft. Denne pr\u00f8ve indeholder cfDNA, sm\u00e5 fragmenter af DNA, der er blevet udskilt af celler i kroppen, herunder eventuelle tumorceller.<\/span><\/li>\n
  2. DNA-ekstraktion og sekventering<\/b>: cfDNA'et udvindes fra blodpr\u00f8ven og sekventeres derefter. Det betyder, at forskerne kortl\u00e6gger r\u00e6kkef\u00f8lgen af de 'byggesten', som DNA'et best\u00e5r af. Det hj\u00e6lper dem med at identificere eventuelle \u00e6ndringer eller mutationer i DNA'et.<\/span><\/li>\n
  3. Analyse af DNA-forandringer<\/b>: Hvert enkelt DNA-molekyle analyseres for eventuelle sekvens\u00e6ndringer, hvilket g\u00f8r det muligt for forskerne at kortl\u00e6gge mutationsprofiler p\u00e5 tv\u00e6rs af hele genomet. I bund og grund leder de efter m\u00f8nstre i mutationerne, som kan tyde p\u00e5, at der er tale om kr\u00e6ft.<\/span><\/li>\n
  4. Maskinl\u00e6ring<\/b>: En maskinl\u00e6ringsmodel, som er blevet tr\u00e6net til at genkende forskellen mellem kr\u00e6ftfremkaldende og ikke-kr\u00e6ftfremkaldende mutationsfrekvenser i forskellige omr\u00e5der af genomet, bruges derefter til at analysere mutationsprofilerne. Maskinl\u00e6ringsmodellen giver derefter en score fra 0 til 1, hvor en h\u00f8jere score indikerer en st\u00f8rre sandsynlighed for kr\u00e6ft.<\/span><\/li>\n
  5. Yderligere validering og testning<\/b>: Hvis GEMINI-scoren er h\u00f8j, hvilket tyder p\u00e5, at der er tale om kr\u00e6ft, anvendes yderligere tests som computertomografi og DELFI-testen (som registrerer \u00e6ndringer i st\u00f8rrelsen og fordelingen af cfDNA-fragmenter p\u00e5 tv\u00e6rs af genomet) til at bekr\u00e6fte diagnosen og registrere kr\u00e6ftstadiet. Denne kombination af tests har vist sig at v\u00e6re meget effektiv og har afsl\u00f8ret over 90% af lungekr\u00e6fttilf\u00e6ldene i unders\u00f8gelsen.<\/span><\/li>\n<\/ol>\n

    Dette er endnu en sp\u00e6ndende unders\u00f8gelse, der afsl\u00f8rer den nye anvendelse af maskinl\u00e6ring til medicinsk diagnostik, denne gang til at analysere kr\u00e6ft p\u00e5 celleniveau. <\/span><\/p>\n

    St\u00f8rre kliniske fors\u00f8g er n\u00f8dvendige for at validere v\u00e6rkt\u00f8jet, f\u00f8r det kan blive tilg\u00e6ngeligt til klinisk brug.<\/span><\/p>\n

    I denne uge har en AI-underst\u00f8ttet screening for brystkr\u00e6ft<\/a> arbejdsgangen forbedrede hastigheden og effektiviteten i vurderingen af mammografier for kr\u00e6ft.\u00a0<\/span><\/p>","protected":false},"excerpt":{"rendered":"

    Forskere p\u00e5 Johns Hopkins Kimmel Cancer Center er i gang med at udvikle en ny blodpr\u00f8veteknologi kaldet GEMINI (Genome-wide Mutational Incidence for Non-Invasive detection of cancer). Ved at kombinere genomisk sekventering af enkelte DNA-molekyler fra tumorer med maskinl\u00e6ring (ML) kan testen g\u00f8re det muligt at opdage lungekr\u00e6ft og andre former for kr\u00e6ft tidligere. GEMINI-testen analyserer fragmenter af cellefrit DNA (cfDNA) fra tumorer og bruger ML til at opdage forskelle i kr\u00e6ft- og ikke-kr\u00e6ftmutationsfrekvenser p\u00e5 tv\u00e6rs af genomet. H\u00f8jere score genereret af modellen antyder en h\u00f8jere sandsynlighed for at have kr\u00e6ft. I laboratorietests blev GEMINI anvendt p\u00e5 computertomografibilleder<\/p>","protected":false},"author":2,"featured_media":3801,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[84],"tags":[203,274,105,101],"class_list":["post-3799","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-industry","tag-biotech","tag-cancer","tag-machine-learning","tag-medtech"],"yoast_head":"\nAI-powered blood test detects cancers in single DNA molecules | DailyAI<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/dailyai.com\/da\/2023\/08\/ai-powered-blood-test-detects-cancers-in-single-dna-molecules\/\" \/>\n<meta property=\"og:locale\" content=\"da_DK\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"AI-powered blood test detects cancers in single DNA molecules | DailyAI\" \/>\n<meta property=\"og:description\" content=\"Researchers at the Johns Hopkins Kimmel Cancer Center are advancing a novel blood testing technology known as GEMINI (Genome-wide Mutational Incidence for Non-Invasive detection of cancer).\u00a0 By merging genome-wide sequencing of single DNA molecules discarded by tumors with machine learning (ML), the test may enable earlier detection of lung and other cancers. The GEMINI test analyzes cell-free DNA (cfDNA) fragments shed by tumors, using ML to detect differences in cancer and non-cancer mutation frequencies across the genome. Higher scores generated by the model suggest a higher probability of having cancer. In lab tests, GEMINI was applied to computerized tomography images\" \/>\n<meta property=\"og:url\" content=\"https:\/\/dailyai.com\/da\/2023\/08\/ai-powered-blood-test-detects-cancers-in-single-dna-molecules\/\" \/>\n<meta property=\"og:site_name\" content=\"DailyAI\" \/>\n<meta property=\"article:published_time\" content=\"2023-08-04T17:59:22+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2023-08-04T18:05:23+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/dailyai.com\/wp-content\/uploads\/2023\/08\/shutterstock_1176407548.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1000\" \/>\n\t<meta property=\"og:image:height\" content=\"563\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Sam Jeans\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@DailyAIOfficial\" \/>\n<meta name=\"twitter:site\" content=\"@DailyAIOfficial\" \/>\n<meta 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